CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0350/03508.txt

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$Unique_ID{BRK03508}
$Pretitle{}
$Title{Autism}
$Subject{Infantile Autism Kanner Syndrome Asperger's Syndrome Childhood
Schizophrenia Deafness Aphasia Epilepsy Pervasive Developmental Disorder
Phenylketonuria (PKU) Congenital Rubella Rett Syndrome}
$Volume{}
$Log{}

Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992
National Organization for Rare Disorders, Inc.

5:
Autism

** IMPORTANT **
It is possible the main title of the article (Autism) is not the name you
expected.  Please check the SYNONYMS listing on the next page to find
alternate names and disorder subdivisions covered by this article.

Synonyms

     Infantile Autism
     Kanner Syndrome

Information on the following diseases can be found in the Related
Disorders section of this report:

     Asperger's Syndrome
     Childhood Schizophrenia
     Deafness Aphasia
     Epilepsy
     Pervasive Developmental Disorder
     Phenylketonuria (PKU)
     Congenital Rubella
     Rett Syndrome

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Autism is a lifelong, nonprogressive neurologic disorder typically
appearing before the age of thirty months.  It is characterized by language
and communication deficits, withdrawal from social contacts and extreme
reactions to changes in the immediate environment.  About seventy-five
percent of autistic children have low scores on standardized intelligence
tests.  The outlook for independent living may be improved with intensive
training.  The life span is normal.

Symptoms

People with Autism generally show some symptoms before the age of 3.  Among
the earliest symptoms are the lack of response to other people and a marked
preference for passive, solitary activity.  The child does not watch others
and avoids any physical contact.  Toddlers seem to form stronger attachments
to objects than to people.  Slight rearrangement of the objects in the
physical surroundings, such as furniture, may produce a violent or extreme
reaction.  Autistic children's response to sounds (aural sensations) and
sight (visual stimuli) is unpredictable, ranging from seeming indifference to
intense emotion.  Hyperactivity is common and may lead to sleeping and eating
disorders.  Temper tantrums may occur if the child feels confused or is
prevented from the pursuit of some activity.  Autistic children may spend
hours rocking rhythmically.  They may also be engaged in some other solitary
repetitive activity for long periods of time; the child appears self-
absorbed.  The control of movement (motor development) is frequently delayed.

Generally there is a delay in the development of language and
communication skills of autistic children.  When speech does develop it is
often characterized by the repetition of another person's words or phrases
(echophrasia) and lack of grammar.  Voluntary statements are often
inappropriate in pitch, rhythm, or inflection.  Some children may learn to
speak, then stop speaking for years.  Although hearing is intact, autistic
children often appear deaf.  Deficits in information processing in the brain
(at the level of synthesis and abstraction)  may account for the difficulties
in acquiring speech and using language.

Rapid emotional changes and a preference for solitude remain prominent as
the autistic child grows up.  Play has a strong ritualistic, repetitive
component.  Unusual mannerisms develop, and bodily posture or limb movements
may be twisted or bent (contorted).  Oral expression may pass into a stage of
tooth grinding and muttering in place of speech.  Reading and writing are
learned with great difficulty.  A few autistic children exhibit unusual and
extraordinary ability in aspects of music, mathematics, or rote memory.

The electrical currents in the brain that are measured in a test known as
an electroencephalography (EEG), show abnormalities in some autistic
patients.

Behavior may improve around school age.  Nevertheless, only a small
proportion of autistic people can learn to live independently, even with
intensive social and educational training.  Most remain dependent and in need
of sheltered homes for life.

Causes

Earlier theories proposing that autism is a result of mental or psychiatric
factors (psychogenic) have been replaced by the theory that the condition is
an organic brain disorder.  Several of the defects in autism can be traced to
the central nervous system's lack of ability to process and respond to
informational input, particularly hearing (auditory) and seeing (visual)
stimuli.  This could account for the impaired thinking, including diminished
interpretive and conceptualizing skills, exhibited by the autistic person.

A genetic cause for some types of autism has been proposed, in part
because of the higher incidence of the disorder in siblings.  It has been
suggested that autism may be inherited through autosomal recessive genes in
some people.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.  In recessive disorders, the condition does not
appear unless a person inherits the same defective gene from each parent.  If
one receives one normal gene and one gene for the disease, the person will be
a carrier for the disease, but usually will show no symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent and will be genetically normal.

A genetic component is also suggested by the greater number of boys than
girls with autism.

The role of metabolic, infectious, genetic and environmental influences
prior to and shortly after birth (pre- and perinatally) is under
investigation.  Defective tryptophan (an essential amino acid) has been
proposed as a possible metabolic factor.  More research is needed to confirm
a genetic origin and to further explain the contribution of prenatal events
to the development of autism.

Affected Population

Autism is fully expressed in about 5:10,000 children.  Approximately
15:10,000 children have 2 or more of the cardinal features of autism.  Boys
are affected 4 times more frequently than girls.

Related Disorders

Symptoms of the following disorders may be similar to those of Autism.

Comparisons may be useful for a differential diagnosis.

Asperger's Syndrome is a neuropsychiatric disorder.  The major symptom of
this disorder is the patient's inability to understand how to interact
socially, but a special interest and ability in reading.  Other features
include poor motor skills and social withdrawal.  The symptoms of Asperger's
Syndrome are not usually recognized until after the age of 30 months.  The
child displays little interest or pleasure in other people but loves to read.
Imaginative play may be absent or repetitious.  (For more information on this
disorder choose "Asperger" as your search term on the Rare Disease Database).

Childhood Schizophrenia is a severe mental disorder whose symptoms
include thought disorder, delusions and hallucinations.  Later onset, fewer
newborn complications and higher IQ scores differentiate this disorder from
autism.  Schizophrenic children often appear to be confused and disoriented.
They may be aggressive or withdraw completely.

Deafness in an infant needs to be investigated and tested.  An infant who
shows evidence of not responding to auditory stimuli should be evaluated to
determine the cause.  The autistic syndrome should be differentiated from
deafness.

Aphasia results when trauma to the brain occurs in the area that controls
language.  Comprehension and oral expression are adversely affected.  The
highest incidence of aphasia is in individuals who have had a stroke or head
trauma.  In children it may be congenital.  Patients may not comprehend ideas
and information received verbally.

Epilepsy is a disorder of the central nervous system.  It is
characterized by recurrent electrical disturbances in the brain.  Symptoms of
this disorder include loss of consciousness, convulsions, spasms, sensory
confusion and disturbances in the autonomic nervous system.  Attacks are
frequently preceded by a feeling of uneasiness, discomfort or strange
behaviors.  If the electrical disturbances or symptoms respond to medication,
the patient can expect an otherwise normal life.  Some types of epilepsy are
characterized by absent staring and an apparent disinterest in the
surrounding environment, which can happen repeatedly throughout the day.
(For more information on this disorder choose "Epilepsy" as your search term
in the Rare Disease Database).

Mental retardation, which has a wide variety of causes, is characterized
by impairment in the development of social skills, verbal and nonverbal
communication skills, and imaginative activity.  Activities and interests are
restricted, stereotyped, and repetitive.  Some mentally retarded people may
have autistic behaviors and many autistic people have mental retardation.

Phenylketonuria (PKU) is a metabolic disorder caused by a deficiency of
an enzyme in the body called phenylalanine hydroxylase.  The interrupted
metabolism of dietary phenylalanine results in the accumulation of
phenylalanine in the bodily fluids.  Untreated this can result in progressive
and severe, irreversible mental retardation.  Infants are normal at birth.
Some newborns may lack energy and feed poorly.  Other symptoms can include
vomiting, irritability, skin rashes, and a musty or foul body odor.  It is
not understood why high levels of phenylalanine cause severe mental
retardation.  Some children with PKU may have autistic behaviors.  (For more
information on this disorder choose "Phenylketonuria" as your search term in
the Rare Disease Database).

Congenital Rubella may result when the virus for German measles is
transmitted across the placenta from mother to fetus.  Congenital rubella is
associated with a wide variety of birth defects.  Some of the permanent
symptoms can include deafness, mental retardation with autistic behaviors,
and malformations of the heart.  The diagnosis of rubella is confirmed
through blood testing for the presence of IgM antibodies to rubella.  (For
more information on this disorder choose "Rubella, Congenital" as your search
term in the Rare Disorder Database).

Rett Syndrome is a disease that affects females with progressive
degenerative changes to the brain.   It is behaviorally similar to autism and
characterized by developmental regression or lose of previously acquired
skills.  The symptoms of Rett Syndrome usually develop after the first 7 to
18 months of the female infant's life.  Deterioration occurs during
subsequent years leading to mental and physical retardation, and severe
dementia.   Initially girls with Rett syndrome may appear autistic and they
display a repetitive "hand washing" type of movement that had no apparent
meaning.  Rett syndrome is an X-linked dominant genetic disorder.  (For more
information on this disorder choose "Rett" as your search term on the Rare
Disease Database).

Therapies:  Standard

The treatment for Autism is primarily educational.  Intensive, highly
structured, skill oriented training on a continual basis is most useful for
the person with autism.  Training and support for and from the parents can
benefit families considerably.  The earlier these programs are instituted,
and the more they provide daily and round the clock structured care, the
better the chances of adjustment are.  Institutionalization, however, is not
recommended.

Hyperactivity and emotional instability may be treated with such major
tranquilizers as trifluoperazine or haloperidol.

Therapies:  Investigational

Investigational studies are now underway on the use of the drug fenfluramine
for autistic people.  Controlled studies are being conducted by Edward Ritvo,
MD; University of California, Los Angeles, California.  Additional studies
are being conducted by Donald Cohen, MD, Director, Yale Child Study Center,
333 Cedar Street, New Haven, Connecticut 06510.

Researchers are studying the role of opioids in the brains of people with
Autism, and some have theorized that autistic people may have unusually high
levels of opioids in their brains.  Opioids are natural brain chemicals that
reduce pain.  Opium and heroin are drugs that mimic natural opioids.
Naltrexone is a drug manufactured for treatment of drug abuse.  It is being
studied as a treatment for Autism on the theory that it may block brain cell
receptors for opioids thereby reducing the overabundance of the
neurochemicals in autistic people.  More research is needed to determine if
Naltrexone may be a safe and effective treatment for Autism.

This disease entry is based upon medical information available through
August 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Autism, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Autism Society of America
     8601 Georgia Ave., Suite 503
     Silver Spring, MD  20910
     [phone]

     National Mental Health Association
     1021 Prince St.
     Alexandria, VA  22314
     [phone]

     National Alliance for the Mentally Ill
     1901 N. Fort Meyer Dr., Suite 500
     Arlington, VA  22209
     [phone]

     National Mental Health Consumer Self-Help Clearinghouse
     311 S. Juniper St., Rm. 902
     Philadelphia, PA  19107
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     NIH/National Institute of Mental Health (NIMH)
     9000 Rockville Pike
     Bethesda, MD 20205
     [phone] or [phone]
     [phone] (24 hrs.)

For information on genetics and genetic counseling referrals please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD 20815
     (800) 336-GENE
     [phone]

References

THE MERCK MANUAL 15th ed. R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 2114.

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 213-4, 834, 1058-9.

NELSON TEXTBOOK OF PEDIATRICS 14th ed.  Richard E. Behrman, M.D.: W.B.
Saunders Company, 1992. P. 72.